Canonical Allele Identifier: CA385041378

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702788T>A (hg19) ; chr12:g.53309004T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53309004T>A , CM000674.2:g.53309004T>A	GRCh38
NC_000012.11:g.53702788T>A , CM000674.1:g.53702788T>A	GRCh37
NC_000012.10:g.51989055T>A	NCBI36
NG_016775.1:g.17625A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.952A>T MANE Select	ENSP00000209873.4:p.Met318Leu
ENST00000546393.7:n.1797A>T
ENST00000546562.6:n.2016A>T
ENST00000547238.6:n.1588A>T
ENST00000547520.6:n.946A>T
ENST00000547757.2:c.1A>T	ENSP00000448020.2:p.Met1Leu
ENST00000548880.2:n.1402A>T
ENST00000548931.6:c.472A>T	ENSP00000457518.1:p.Met158Leu
ENST00000549450.6:n.886A>T
ENST00000552161.6:n.1908A>T
ENST00000672797.1:n.1405A>T
ENST00000672900.1:n.1750A>T
ENST00000209873.8:c.952A>T	ENSP00000209873.4:p.Met318Leu
ENST00000394384.7:c.853A>T	ENSP00000377908.3:p.Met285Leu
ENST00000546572.1:n.540A>T
ENST00000547520.5:n.656A>T
ENST00000548931.5:c.472A>T	ENSP00000457518.1:p.Met158Leu
ENST00000550033.5:n.207A>T
ENST00000550286.5:c.580A>T	ENSP00000446885.1:p.Met194Leu
ENST00000552876.5:n.1295A>T
NM_001173466.1:c.853A>T	NP_001166937.1:p.Met285Leu
NM_015665.5:c.952A>T	NP_056480.1:p.Met318Leu
XM_006719617.2:c.967A>T	XP_006719680.1:p.Met323Leu
XM_006719619.2:c.967A>T	XP_006719682.1:p.Met323Leu
XM_011538777.1:c.967A>T	XP_011537079.1:p.Met323Leu
XM_011538778.1:c.952A>T	XP_011537080.1:p.Met318Leu
XM_011538779.1:c.868A>T	XP_011537081.1:p.Met290Leu
XM_011538780.1:c.853A>T	XP_011537082.1:p.Met285Leu
XM_011538781.1:c.301A>T	XP_011537083.1:p.Met101Leu
XM_011538778.2:c.952A>T	XP_011537080.1:p.Met318Leu
XM_011538780.2:c.853A>T	XP_011537082.1:p.Met285Leu
XR_001748875.2:n.973A>T
NM_015665.6:c.952A>T MANE Select	NP_056480.1:p.Met318Leu
NM_001173466.2:c.853A>T	NP_001166937.1:p.Met285Leu